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Table 2 List of 32 alterations analyzed using the TaqMan® OpenArray™ Genotyping Platform

From: Optimization of simultaneous screening of the main mutations involved in non-syndromic deafness using the TaqMan® OpenArray™ Genotyping Platform

Gene (GenBank ID)

Alteration

Protein modification

Bibliographical reference

GJB2 (ID 2706)

c.283G > A

p.V95M

[19]

c.339 T > G

p.S113R

[19]

c.279G > A

p.M93I

[20]

c.286G > A

p.W24X

[21]

c.439G > A

p.E147K

[15]

c.617A > G

p.N206S

[22]

c.385G > A

p.E129K

[22]

c.109G > A

p.V37I

[19]

c.269 T > C

p.L90P

[23]

c.550C > G

p.R184W

[24]

c.551G > C

p.R184P

[25]

c.516G > A

p.W172X

[15]

c.224G > A

p.R75Q

[15]

c.101 T > C

p.M34T

[26]

c.457G > A

p.V153I

[15]

c.503A > G

p.K168R

[15]

c.35delG

Frameshift

[27]

c.167delT

Frameshift

[27]

c.235delC

Frameshift

 

GJB6 (ID 10804)

c.6013G > T

  

OTOF (ID 9381)

c.2485C > T

p.Q829X

[28]

miR96 (ID 407053)

c.13G > A

 

[29]

 

c.14C > A

 

[29]

TMC1 (ID 117531)

c.1939 T > C

p.S647P

[30]

CRYL1 (ID 51084)

c.1622 T > C

  

MT-TS1 (ID 4574)

m.7445A > G

 

[31]

MT-RNR1 (ID 6775087)

m.1555A > G

 

[32]

m.827A > G

 

[33]

 

m.1494C > T

 

[34]

SLC26A4 (ID 5172)

c.445G > A

p.G149R

[35]

c.1238A > G

p.Q413R

[35]

 

c.1826 T > G

p.V609G

[36]